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GENATLAS PHENOTYPE

last update : 05-12-2012

Symbol	CLN12
Location	1p36
Name	ceroid-lipofuscinosis, neuronal, 12
Corresponding gene	ATP13A2
Main clinical features	juvenile form difficulties in learning from around the ages of 8 years, with vacuolated lymphocytes unsteady gait, myoclonus and mood disturbance, progressing to clear extrapyramidal involvement with akinesia and rigidity, and dysarthric speech progressive spinocerebellar ataxia, bulbar syndrome, extrapyramidal and pyramidal involvement, and intellectual deterioration
Genetic determination	autosomal recessive
Function/system disorder	neurology
	eye
Type	disease

Remark(s)